Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA916077499

Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 7998

ClinVar RCV Id: RCV000008462

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Ile54Thr	CA254304 NM_181486.4:c.161T>C